SHOX cDNA ORF clone, Homo sapiens(human)

Gene
Clones
gRNAs

Summary

Gene Symbol	SHOX
Entrez Gene ID	6473
Full Name	short stature homeobox
Synonyms	GCFX,PHOG,SHOXY,SS
General protein information	Preferred Names short stature homeobox Names short stature homeobox protein growth control factor, X-linked pseudoautosomal homeobox-containing osteogenic protein
Gene Type	protein-coding
Organism	Homo sapiens(human)
Genome	Chromosome: X\|Y Map Location: Xp22.33 and Yp11.2
Summary	This gene belongs to the paired homeobox family and is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes. Defects in this gene are associated with idiopathic growth retardation and in the short stature phenotype of Turner syndrome patients. This gene is highly conserved across species from mammals to fish to flies. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008].
Disorder MIM:	312865
Disorder Html:	Short stature, idiopathic familial, 300582 (3); Leri-Weill dyschondrosteosis, 127300 (3); Langer mesomelic dysplasia, 249700 (3)

mRNA and Protein(s)

mRNA	Protein	Name
NM_000451.3	NP_000442.1	short stature homeobox protein isoform SHOXa
NM_006883.2	NP_006874.1	short stature homeobox protein isoform SHOXb

Pathways from BioSystems

Homologies

Homo sapiens (human)	SHOX	NP_000442.1
Xenopus tropicalis (tropical clawed frog)	shox	XP_004911874.1
Bos taurus (cattle)	SHOX	NP_001178475.1
Gallus gallus (chicken)	SHOX	NP_001073192.1
Danio rerio (zebrafish)	shox	NP_001119883.1
Canis lupus familiaris (dog)	SHOX	NP_001020793.1

Gene Ontology
Bibliography

Related articles in PubMed

Severe rhizomelic shortening in a child with a complex duplication/deletion rearrangement of chromosome X.
Deshwar AR, Dupuis L, Bergmann C, Stavropoulos J, Mendoza-Londono R
American journal of medical genetics. Part A176(2)450-454(2018 Feb)

Growth response to growth hormone treatment in patients with SHOX deficiency can be predicted by the Cologne prediction model.
Hoyer-Kuhn H, Franklin J, Jones C, Blum WF, Schoenau E
Journal of pediatric endocrinology & metabolism : JPEM31(1)25-31(2018 Jan)

Improving clinical diagnosis in SHOX deficiency: the importance of growth velocity.
Genoni G, Monzani A, Castagno M, Ricotti R, Rapa A, Petri A, Babu D, Giordano M, Prodam F, Bona G, Bellone S
Pediatric research(2017 Dec)

SHOX deficiency in short Taiwanese children: A single-center experience.
Tung YC, Lee NC, Hwu WL, Liu SY, Lee CT, Chien YH, Tsai WY
Journal of the Formosan Medical Association = Taiwan yi zhi(2017 Dec)

GeneRIFs: Gene References Into Functions What's a GeneRIF?

SHOX duplications encompassing CNE-9 enhancer are highly penetrant alleles for Leri-Weill dyschondrosteosis.
Title: Comparison of SHOX and associated elements duplications distribution between patients (L?ri-Weill dyschondrosteosis/idiopathic short stature) and population sample.

SHOX haploinsufficiency has a role in short stature in children
Title: Prevalence of SHOX haploinsufficiency among short statured children.

Together, these findings describe CYP26C1 as the first genetic modifier for SHOX deficiency.
Title: Retinoic acid catabolizing enzyme CYP26C1 is a genetic modifier in SHOX deficiency.

The 15523-bp SHOX intragenic deletion, encompassing exons 3-6, was initially detected by array-CGH, followed by MLPA analysis. Sequencing of the breakpoints indicated an Alu recombination-mediated deletion (ARMD) as the potential causative mechanism.
Title: Identification of a novel 15.5 kb SHOX deletion associated with marked intrafamilial phenotypic variability and analysis of its molecular origin.

Genotype-Phenotype Relationship in Patients and Relatives with SHOX Region Anomalies in the French Population.
Title: Genotype-Phenotype Relationship in Patients and Relatives with SHOX Region Anomalies in the French Population.

The following SHOX gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the SHOX cDNA ORF which is encoded by the open reading frame (ORF) sequence. ORF sequences can be delivered in our standard vector, pcDNA3.1⁺/C-(K)DYK or the vector of your choice as an expression/transfection-ready ORF clone. Not the clone you want? Click here to find your clone.

***CloneID	Accession No.	Definition	**Vector	*Turnaround time	Price (USD)	Select
OHu22956	NM_000451.3 Latest version!	Homo sapiens short stature homeobox (SHOX), transcript variant 1, mRNA.	pcDNA3.1-C-(k)DYK or customized vector	in pcDNA3.1-C-(k)DYK	$154.50-$216.30 $309.00
OHu23147	NM_006883.2 Latest version!	Homo sapiens short stature homeobox (SHOX), transcript variant 2, mRNA.	pcDNA3.1-C-(k)DYK or customized vector	7-9	$188.30 $269.00

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** You may select a custom vector to replace pcDNA3.1+/C-(K)DYK after clone is added to cart.

** GenScript guarantees 100% sequence accuracy of all synthetic DNA constructs we deliver, but we do not guarantee protein expression in your experimental system. Protein expression is influenced by many factors that may vary between experiments or laboratories. In addition, please pay attention to the signal peptide, propeptide and transit peptide in target ORF, which may affect the choice of vector (N/C terminal tag vector).

***One clone ID might be correlated to multiple accession numbers, which share the same CDS sequence.

Reference Sequences (Refseq)

SHOX ( NM_000451.3 ) cDNA ORF clone, Homo sapiens(human) -> NP_000442.1 Homo sapiens short stature homeobox (SHOX), transcript variant 1, mRNA.

Price & Availability↑

CloneID	OHu22956
Clone ID Related Accession (Same CDS sequence)	NM_000451.3
Accession Version	NM_000451.3 Latest version!	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 879bp) Protein sequence SNP
Vector	pcDNA3.1-C-(k)DYK or customized vector	User Manual
Clone information	Clone Map	MSDS
Tag on pcDNA3.1⁺/C-(K)DYK	C terminal DYKDDDDK tags
ORF Insert Method	CloneEZ™ Seamless cloning technology
Insert Structure	linear
Update Date	2019-09-23
Organism	Homo sapiens(human)
Product	short stature homeobox protein isoform SHOXa
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BX004827.19. This sequence is a reference standard in the RefSeqGene project. On Mar 8, 2006 this sequence version replaced NM_000451.2. Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (SHOXa). Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## CDS exon combination :: U89331.1, Y11536.1 [ECO:0000331] RNAseq introns :: single sample supports all introns SAMEA2467146 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000381578.6/ ENSP00000370990.1 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## COMPLETENESS: full length.

ATGGAAGAGC TCACGGCTTT TGTATCCAAG TCTTTTGACC AGAAAAGCAA GGACGGTAAC 
GGCGGAGGCG GAGGCGGCGG AGGTAAGAAG GATTCCATTA CGTACCGGGA AGTTTTGGAG 
AGCGGACTGG CGCGCTCCCG GGAGCTGGGG ACGTCGGATT CCAGCCTCCA GGACATCACG 
GAGGGCGGCG GCCACTGCCC GGTGCATTTG TTCAAGGACC ACGTAGACAA TGACAAGGAG 
AAACTGAAAG AATTCGGCAC CGCGAGAGTG GCAGAAGGGA TTTATGAATG CAAAGAGAAG 
CGCGAGGACG TGAAGTCGGA GGACGAGGAC GGGCAGACCA AGCTGAAACA GAGGCGCAGC 
CGCACCAACT TCACGCTGGA GCAGCTGAAC GAGCTCGAGC GACTCTTCGA CGAGACCCAT 
TACCCCGACG CCTTCATGCG CGAGGAGCTC AGCCAGCGCC TGGGGCTCTC CGAGGCGCGC 
GTGCAGGTTT GGTTCCAGAA CCGGAGAGCC AAGTGCCGCA AACAAGAGAA TCAGATGCAT 
AAAGGCGTCA TCTTGGGCAC AGCCAACCAC CTAGACGCCT GCCGAGTGGC ACCCTACGTC 
AACATGGGAG CCTTACGGAT GCCTTTCCAA CAGGTCCAGG CTCAGCTGCA GCTGGAAGGC 
GTGGCCCACG CGCACCCGCA CCTGCACCCG CACCTGGCGG CGCACGCGCC CTACCTGATG 
TTCCCCCCGC CGCCCTTCGG GCTGCCCATC GCGTCGCTGG CCGAGTCCGC CTCGGCCGCC 
GCCGTGGTCG CCGCCGCCGC CAAAAGCAAC AGCAAGAATT CCAGCATCGC CGACCTGCGG 
CTCAAGGCGC GGAAGCACGC GGAGGCCCTG GGGCTCTGA

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

RefSeq	NP_000442.1
CDS	692..1570
Translation	MEELTAFVSKSFDQKSKDGNGGGGGGGGKKDSITYREVLESGLARSRELGTSDSSLQDITEGGGHCPVHLFKDHVDNDKEKLKEFGTARVAEGIYECKEKREDVKSEDEDGQTKLKQRRSRTNFTLEQLNELERLFDETHYPDAFMREELSQRLGLSEARVQVWFQNRRAKCRKQENQMHKGVILGTANHLDACRVAPYVNMGALRMPFQQVQAQLQLEGVAHAHPHLHPHLAAHAPYLMFPPPPFGLPIASLAESASAAAVVAAAAKSNSKNSSIADLRLKARKHAEALGL

Target ORF information:

RefSeq Version	NM_000451.3
Organism	Homo sapiens(human)
Definition	Homo sapiens short stature homeobox (SHOX), transcript variant 1, mRNA.

Target ORF information:

Epitope	DYKDDDDK
Bacterial selection	AMP^R
Mammalian selection	Neo^R
Vector	pcDNA3.1⁺/C-(K)DYK

NM_000451.3

ORF Insert Sequence:

ATGGAAGAGC TCACGGCTTT TGTATCCAAG TCTTTTGACC AGAAAAGCAA GGACGGTAAC 
GGCGGAGGCG GAGGCGGCGG AGGTAAGAAG GATTCCATTA CGTACCGGGA AGTTTTGGAG 
AGCGGACTGG CGCGCTCCCG GGAGCTGGGG ACGTCGGATT CCAGCCTCCA GGACATCACG 
GAGGGCGGCG GCCACTGCCC GGTGCATTTG TTCAAGGACC ACGTAGACAA TGACAAGGAG 
AAACTGAAAG AATTCGGCAC CGCGAGAGTG GCAGAAGGGA TTTATGAATG CAAAGAGAAG 
CGCGAGGACG TGAAGTCGGA GGACGAGGAC GGGCAGACCA AGCTGAAACA GAGGCGCAGC 
CGCACCAACT TCACGCTGGA GCAGCTGAAC GAGCTCGAGC GACTCTTCGA CGAGACCCAT 
TACCCCGACG CCTTCATGCG CGAGGAGCTC AGCCAGCGCC TGGGGCTCTC CGAGGCGCGC 
GTGCAGGTTT GGTTCCAGAA CCGGAGAGCC AAGTGCCGCA AACAAGAGAA TCAGATGCAT 
AAAGGCGTCA TCTTGGGCAC AGCCAACCAC CTAGACGCCT GCCGAGTGGC ACCCTACGTC 
AACATGGGAG CCTTACGGAT GCCTTTCCAA CAGGTCCAGG CTCAGCTGCA GCTGGAAGGC 
GTGGCCCACG CGCACCCGCA CCTGCACCCG CACCTGGCGG CGCACGCGCC CTACCTGATG 
TTCCCCCCGC CGCCCTTCGG GCTGCCCATC GCGTCGCTGG CCGAGTCCGC CTCGGCCGCC 
GCCGTGGTCG CCGCCGCCGC CAAAAGCAAC AGCAAGAATT CCAGCATCGC CGACCTGCGG 
CTCAAGGCGC GGAAGCACGC GGAGGCCCTG GGGCTCTGA

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

SHOX ( NM_006883.2 ) cDNA ORF clone, Homo sapiens(human) -> NP_006874.1 Homo sapiens short stature homeobox (SHOX), transcript variant 2, mRNA.

Price & Availability↑

CloneID	OHu23147
Clone ID Related Accession (Same CDS sequence)	NM_006883.2
Accession Version	NM_006883.2 Latest version!	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 678bp) Protein sequence SNP
Vector	pcDNA3.1-C-(k)DYK or customized vector	User Manual
Clone information	Clone Map	MSDS
Tag on pcDNA3.1⁺/C-(K)DYK	C terminal DYKDDDDK tags
ORF Insert Method	CloneEZ™ Seamless cloning technology
Insert Structure	linear
Update Date	2019-09-23
Organism	Homo sapiens(human)
Product	short stature homeobox protein isoform SHOXb
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BX004827.19. This sequence is a reference standard in the RefSeqGene project. On Mar 8, 2006 this sequence version replaced NM_006883.1. Transcript Variant: This variant (2) contains an alternate 3' terminal exon compared to transcript variant 1, and encodes a shorter isoform (SHOXb) with a different C-terminus compared to isoform SHOXa. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## CDS exon combination :: Y11535.1 [ECO:0000331] RNAseq introns :: mixed/partial sample support SAMEA2467146 [ECO:0000350] ##Evidence-Data-END## COMPLETENESS: full length.

ATGGAAGAGC TCACGGCTTT TGTATCCAAG TCTTTTGACC AGAAAAGCAA GGACGGTAAC 
GGCGGAGGCG GAGGCGGCGG AGGTAAGAAG GATTCCATTA CGTACCGGGA AGTTTTGGAG 
AGCGGACTGG CGCGCTCCCG GGAGCTGGGG ACGTCGGATT CCAGCCTCCA GGACATCACG 
GAGGGCGGCG GCCACTGCCC GGTGCATTTG TTCAAGGACC ACGTAGACAA TGACAAGGAG 
AAACTGAAAG AATTCGGCAC CGCGAGAGTG GCAGAAGGGA TTTATGAATG CAAAGAGAAG 
CGCGAGGACG TGAAGTCGGA GGACGAGGAC GGGCAGACCA AGCTGAAACA GAGGCGCAGC 
CGCACCAACT TCACGCTGGA GCAGCTGAAC GAGCTCGAGC GACTCTTCGA CGAGACCCAT 
TACCCCGACG CCTTCATGCG CGAGGAGCTC AGCCAGCGCC TGGGGCTCTC CGAGGCGCGC 
GTGCAGGTTT GGTTCCAGAA CCGGAGAGCC AAGTGCCGCA AACAAGAGAA TCAGATGCAT 
AAAGGCGTCA TCTTGGGCAC AGCCAACCAC CTAGACGCCT GCCGAGTGGC ACCCTACGTC 
AACATGGGAG CCTTACGGAT GCCTTTCCAA CAGATGGAGT TTTGCTCTTG TCGCCCGGGC 
TGGAGTATAA TGGCATGA

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

RefSeq	NP_006874.1
CDS	692..1369
Translation	MEELTAFVSKSFDQKSKDGNGGGGGGGGKKDSITYREVLESGLARSRELGTSDSSLQDITEGGGHCPVHLFKDHVDNDKEKLKEFGTARVAEGIYECKEKREDVKSEDEDGQTKLKQRRSRTNFTLEQLNELERLFDETHYPDAFMREELSQRLGLSEARVQVWFQNRRAKCRKQENQMHKGVILGTANHLDACRVAPYVNMGALRMPFQQMEFCSCRPGWSIMA

Target ORF information:

RefSeq Version	NM_006883.2
Organism	Homo sapiens(human)
Definition	Homo sapiens short stature homeobox (SHOX), transcript variant 2, mRNA.

Target ORF information:

Epitope	DYKDDDDK
Bacterial selection	AMP^R
Mammalian selection	Neo^R
Vector	pcDNA3.1⁺/C-(K)DYK

NM_006883.2

ORF Insert Sequence:

ATGGAAGAGC TCACGGCTTT TGTATCCAAG TCTTTTGACC AGAAAAGCAA GGACGGTAAC 
GGCGGAGGCG GAGGCGGCGG AGGTAAGAAG GATTCCATTA CGTACCGGGA AGTTTTGGAG 
AGCGGACTGG CGCGCTCCCG GGAGCTGGGG ACGTCGGATT CCAGCCTCCA GGACATCACG 
GAGGGCGGCG GCCACTGCCC GGTGCATTTG TTCAAGGACC ACGTAGACAA TGACAAGGAG 
AAACTGAAAG AATTCGGCAC CGCGAGAGTG GCAGAAGGGA TTTATGAATG CAAAGAGAAG 
CGCGAGGACG TGAAGTCGGA GGACGAGGAC GGGCAGACCA AGCTGAAACA GAGGCGCAGC 
CGCACCAACT TCACGCTGGA GCAGCTGAAC GAGCTCGAGC GACTCTTCGA CGAGACCCAT 
TACCCCGACG CCTTCATGCG CGAGGAGCTC AGCCAGCGCC TGGGGCTCTC CGAGGCGCGC 
GTGCAGGTTT GGTTCCAGAA CCGGAGAGCC AAGTGCCGCA AACAAGAGAA TCAGATGCAT 
AAAGGCGTCA TCTTGGGCAC AGCCAACCAC CTAGACGCCT GCCGAGTGGC ACCCTACGTC 
AACATGGGAG CCTTACGGAT GCCTTTCCAA CAGATGGAGT TTTGCTCTTG TCGCCCGGGC 
TGGAGTATAA TGGCATGA

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

PubMed

Severe rhizomelic shortening in a child with a complex duplication/deletion rearrangement of chromosome X.
American journal of medical genetics. Part A176(2)450-454(2018 Feb)
Deshwar AR,Dupuis L,Bergmann C,Stavropoulos J,Mendoza-Londono R

Growth response to growth hormone treatment in patients with SHOX deficiency can be predicted by the Cologne prediction model.
Journal of pediatric endocrinology & metabolism : JPEM31(1)25-31(2018 Jan)
Hoyer-Kuhn H,Franklin J,Jones C,Blum WF,Schoenau E

Improving clinical diagnosis in SHOX deficiency: the importance of growth velocity.
Pediatric research(2017 Dec)
Genoni G,Monzani A,Castagno M,Ricotti R,Rapa A,Petri A,Babu D,Giordano M,Prodam F,Bona G,Bellone S

SHOX deficiency in short Taiwanese children: A single-center experience.
Journal of the Formosan Medical Association = Taiwan yi zhi(2017 Dec)
Tung YC,Lee NC,Hwu WL,Liu SY,Lee CT,Chien YH,Tsai WY

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SHOX cDNA ORF clone, Homo sapiens(human)

Gene

Clones

gRNAs

Related articles in PubMed

Target ORF information:

Target ORF information:

ORF Insert Sequence:

Target ORF information:

Target ORF information:

ORF Insert Sequence:

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